Preferred Name | Ectrodactyly | |
Synonyms |
|
|
Definitions |
A rare genetic disorder often inherited in an autosomal manner characterized by limb malformations including syndactyly, median clefts of the hands and/or feet, and partial or complete absence of fingers or toes. It may be associated with other skeletal and extraskeletal abnormalities. |
|
ID |
http://purl.obolibrary.org/obo/NCIT_C75000 |
|
code |
C75000 |
|
Contributing_Source |
NICHD |
|
definition |
A rare genetic disorder often inherited in an autosomal manner characterized by limb malformations including syndactyly, median clefts of the hands and/or feet, and partial or complete absence of fingers or toes. It may be associated with other skeletal and extraskeletal abnormalities. |
|
in_subset | ||
label |
Ectrodactyly |
|
Legacy Concept Name |
Split_Hand_Foot_Malformation |
|
Preferred_Name |
Ectrodactyly |
|
prefixIRI |
NCIT:C75000 |
|
prefLabel |
Ectrodactyly |
|
Semantic_Type |
Disease or Syndrome |
|
UMLS_CUI |
C0265554 |
|
subClassOf |
Create mapping